FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial hemophagocytic lymphohistiocytosis 1 ID (Ontology) DOID:0110921 (Human Disease)
Definition A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22.
Also Known As "FHL1" ; "HLH1" ; "HPLH1"
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autosomal genetic disease
 |__autosomal recessive disease_________
lymphatic system disease                |
 |__hemophagocytic lymphohistiocytosis__|
                                        familial hemophagocytic lymphohistiocytosis 1
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Is a hemophagocytic lymphohistiocytosis
autosomal recessive disease
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Synonyms
  • "FHL1" EXACT OMO:0003012
    "HLH1" EXACT OMO:0003012
    "HPLH1" EXACT OMO:0003012
Secondary IDs
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MIM:267700